Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the cerebrospinal fluid (HP:0002921)

Parent Node:
Abnormal CSF metabolite level (HP:0025454)

..Starting node
..Increased CSF interferon alpha (HP:0009709)

Term ID:

9709

Name:

Increased CSF interferon alpha

Synonym:

Definition:

Increased concentration of interferon alpha in the cerebrospinal fluid (CSF).

Comments:

Reference:

HP:0009709

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal CSF biopterin level (HP:0040207)

Abnormal CSF dopamine level (HP:0012654)

Abnormal CSF glucose level (HP:0031884)

Abnormal CSF lactate level (HP:0030085)

Abnormal CSF neopterin level (HP:0040203)

Decreased CSF 5-hydroxyindolacetic acid (HP:0025455)

Decreased CSF 5-methyltetrahydrofolate concentration (HP:0012446)

Decreased CSF homovanillic acid (HP:0003785)

Decreased level of erythritol in CSF (HP:0410056)

Increased level of D-threitol in CSF (HP:0410058)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0009709	HP:0009709	Increased CSF interferon alpha	0	ADAR CL E G H	103	51				ORPHA	1	1122	225	146920
HP:0009709	HP:0009709	Increased CSF interferon alpha	0	IFIH1 CL E G H	64135	51				ORPHA	1	1170	18873	606951
HP:0009709	HP:0009709	Increased CSF interferon alpha	0	RNASEH2A CL E G H	10535	51				ORPHA	1	404	18518	606034
HP:0009709	HP:0009709	Increased CSF interferon alpha	0	RNASEH2B CL E G H	79621	51				ORPHA	1	426	25671	610326
HP:0009709	HP:0009709	Increased CSF interferon alpha	0	RNASEH2C CL E G H	84153	51				ORPHA	1	307	24116	610330
HP:0009709	HP:0009709	Increased CSF interferon alpha	0	SAMHD1 CL E G H	25939	51				ORPHA	1	746	15925	606754
HP:0009709	HP:0009709	Increased CSF interferon alpha	0	TREX1 CL E G H	11277	51				ORPHA	1	418	12269	606609
HP:0009709	HP:0009709	Increased CSF interferon alpha	0	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	418	12269	606609
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (7) :ADAR IFIH1 RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1

Diseases (2) :51 225750

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.